Genetics, Birth Defects

Contributing journals to this collection:
AAP Grand Rounds, NeoReviews, Pediatrics, and Pediatrics in Review

Citations 21-30 of 219 total displayed.

Past content

Pediatr. Rev.
Articles
In Brief: Achondroplasia
William B. Stratbucker and Janet R. Serwint
Pediatr. Rev. 2009; 30: 114-115. [Extract] [Full text] [PDF]  

Pediatrics
ARTICLES
Distinct Genetic Risk Based on Association of MET in Families With Co-occurring Autism and Gastrointestinal Conditions
Daniel B. Campbell, Timothy M. Buie, Harland Winter, Margaret Bauman, James S. Sutcliffe, James M. Perrin, and Pat Levitt
Pediatrics 2009; 123: 1018-1024. [Abstract] [Full text] [PDF]  

Pediatrics
LETTERS TO THE EDITOR
Twin Zygosity Studies and the Genetic Basis of Neonatal Morbidities: In Reply
Pascal M. Lavoie and Rollin Brant
Pediatrics 2009; 123: e352-a-e -a353. [Extract] [Full text] [PDF]  

Pediatrics
LETTERS TO THE EDITOR
Twin Zygosity Studies and the Genetic Basis of Neonatal Morbidities
Ayman Habiba
Pediatrics 2009; 123: e352. [Extract] [Full text] [PDF]  

NeoReviews
Articles
Folic Acid: Preventive Nutrition for Preconception, the Fetus, and the Newborn
Richard B. Johnston, Jr
NeoReviews 2009; 10: e10-e19. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I
Lorne A. Clarke, J. Edmond Wraith, Michael Beck, Edwin H. Kolodny, Gregory M. Pastores, Joseph Muenzer, David M. Rapoport, Kenneth I. Berger, Marisa Sidman, Emil D. Kakkis, and Gerald F. Cox
Pediatrics 2009; 123: 229-240. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Has Prenatal Screening Influenced the Prevalence of Comorbidities Associated With Down Syndrome and Subsequent Survival Rates?
Jane Halliday, Veronica Collins, Merilyn Riley, Danielle Youssef, and Evelyne Muggli
Pediatrics 2009; 123: 256-261. [Abstract] [Full text] [PDF]  

Pediatrics
REVIEW ARTICLES
Advances in the Treatment of Fragile X Syndrome
Randi J. Hagerman, Elizabeth Berry-Kravis, Walter E. Kaufmann, Michele Y. Ono, Nicole Tartaglia, Ave Lachiewicz, Rebecca Kronk, Carol Delahunty, David Hessl, Jeannie Visootsak, Jonathan Picker, Louise Gane, and Michael Tranfaglia
Pediatrics 2009; 123: 378-390. [Abstract] [Full text] [PDF]  

Pediatrics
SPECIAL ARTICLES
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations
Laurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, Bert L. Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Elodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart L. Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan-Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy J. Halliday, Christophe Béroud, Claire Bonithon-Kopp, Mireille Claustres, Peter N. Robinson, Lesley Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Catherine Boileau, and Guillaume Jondeau
Pediatrics 2009; 123: 391-398. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis
Xin-Yan Lu, Mai T. Phung, Chad A. Shaw, Kim Pham, Sarah E. Neil, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Pawel Stankiewicz, Sung-Hae Lee Kang, Seema Lalani, A. Craig Chinault, James R. Lupski, Sau W. Cheung, and Arthur L. Beaudet
Pediatrics 2008; 122: 1310-1318. [Abstract] [Full text] [PDF]  

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